Publications:

Enamel and dentin in Enamel renal syndrome: A confocal Raman microscopy view.

Frontiers In Physiology

Desoutter, Alban A; Cases, Olivier O; Collart Dutilleul, Pierre Yves PY; Simancas Escorcia, Victor V; Cannaya, Vidjea V; Cuisinier, Frédéric F; Kozyraki, Renata R

Publication Date: 2022

Variant appearance in text: FAM20A: 1513delA; I505Sfs

PubMed Link: 36091358

Variant Present in the following documents:

• Main text
• Presentation1.pdf
• fphys-13-957110.pdf

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Pathogenesis of Enamel-Renal Syndrome Associated Gingival Fibromatosis: A Proteomic Approach.

Frontiers In Endocrinology

Simancas Escorcia, Victor V; Guillou, Clément C; Abbad, Lilia L; Derrien, Louise L; Rodrigues Rezende Costa, Claudio C; Cannaya, Vidjea V; Benassarou, Mourad M; Chatziantoniou, Christos C; Berdal, Ariane A; Acevedo, Ana Carolina AC; Cases, Olivier O; Cosette, Pascal P; Kozyraki, Renata R

Publication Date: 2021

Variant appearance in text: FAM20A: 1513delA

PubMed Link: 34777248

Variant Present in the following documents:

• Main text
• fendo-12-752568.pdf

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Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations.

Orphanet Journal Of Rare Diseases

de la Dure-Molla, Muriel M; Quentric, Mickael M; Yamaguti, Paulo Marcio PM; Acevedo, Ana-Carolina AC; Mighell, Alan J AJ; Vikkula, Miikka M; Huckert, Mathilde M; Berdal, Ariane A; Bloch-Zupan, Agnes A

Publication Date: 2014-06-14

Variant appearance in text: FAM20A: 1513delA; Ile505Serfs*2

PubMed Link: 24927635

Variant Present in the following documents:

• Main text
• 1750-1172-9-84.pdf

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Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

Nephron. Physiology

Jaureguiberry, Graciana G; De la Dure-Molla, Muriel M; Parry, David D; Quentric, Mickael M; Himmerkus, Nina N; Koike, Toshiyasu T; Poulter, James J; Klootwijk, Enriko E; Robinette, Steven L SL; Howie, Alexander J AJ; Patel, Vaksha V; Figueres, Marie-Lucile ML; Stanescu, Horia C HC; Issler, Naomi N; Nicholson, Jeremy K JK; Bockenhauer, Detlef D; Laing, Christopher C; Walsh, Stephen B SB; McCredie, David A DA; Povey, Sue S; Asselin, Audrey A; Picard, Arnaud A; Coulomb, Aurore A; Medlar, Alan J AJ; Bailleul-Forestier, Isabelle I; Verloes, Alain A; Le Caignec, Cedric C; Roussey, Gwenaelle G; Guiol, Julien J; Isidor, Bertrand B; Logan, Clare C; Shore, Roger R; Johnson, Colin C; Inglehearn, Christopher C; Al-Bahlani, Suhaila S; Schmittbuhl, Matthieu M; Clauss, François F; Huckert, Mathilde M; Laugel, Virginie V; Ginglinger, Emmanuelle E; Pajarola, Sandra S; Spartà, Giuseppina G; Bartholdi, Deborah D; Rauch, Anita A; Addor, Marie-Claude MC; Yamaguti, Paulo M PM; Safatle, Heloisa P HP; Acevedo, Ana Carolina AC; Martelli-Júnior, Hercílio H; dos Santos Netos, Pedro E PE; Coletta, Ricardo D RD; Gruessel, Sandra S; Sandmann, Carolin C; Ruehmann, Denise D; Langman, Craig B CB; Scheinman, Steven J SJ; Ozdemir-Ozenen, Didem D; Hart, Thomas C TC; Hart, P Suzanne PS; Neugebauer, Ute U; Schlatter, Eberhard E; Houillier, Pascal P; Gahl, William A WA; Vikkula, Miikka M; Bloch-Zupan, Agnès A; Bleich, Markus M; Kitagawa, Hiroshi H; Unwin, Robert J RJ; Mighell, Alan A; Berdal, Ariane A; Kleta, Robert R

Publication Date: 2012

Variant appearance in text: FAM20A: 1513delA

PubMed Link: 23434854

Variant Present in the following documents:

• Main text
• nep-0122-0001.pdf

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